Megalencephaly–Capillary Malformation–Polymicrogyria with Cerebral Venous Thrombosis

Megalencephaly–capillary malformation–polymicrogyria (MCAP) syndrome (OMIM #602501) is characterized by megalencephaly, midline capillary malformations, and cortical malformations. This genetic overgrowth syndrome is associated with mosaic gain-of-function pathogenic PIK3CA variants (OMIM #171834)....

Full description

Saved in:
Bibliographic Details
Published in:Canadian journal of neurological sciences 2020-11, Vol.47 (6), p.828-829
Main Authors: Fortin, Olivier, Ashour, Mohammed, Lacroix, Caroline, Sabapathy, Christine A., Myers, Kenneth A.
Format: Article
Language:English
Subjects:
Mutation
Neuroimaging Highlights
Sinuses
Thrombosis
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Megalencephaly–capillary malformation–polymicrogyria (MCAP) syndrome (OMIM #602501) is characterized by megalencephaly, midline capillary malformations, and cortical malformations. This genetic overgrowth syndrome is associated with mosaic gain-of-function pathogenic PIK3CA variants (OMIM #171834).
ISSN:0317-1671
2057-0155
DOI:10.1017/cjn.2020.127